Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dynein 2 intermediate chain 2
Synonyms:
3200002I06Rik,  Wdr34

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dync2i2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dync2i2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Short stature, Abnormality of the metaphysis, Short foot, ... ORPHA:474
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Disproportionate short-limb short stature, Abnormality of the ... ORPHA:93271

The table below shows human diseases predicted to be associated to Dync2i2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short stature, Short 1st metacarpal, Brachyd... OMIM:113100
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar emi... OMIM:211960
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly OMIM:233270
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... ORPHA:957
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydactyly ORPHA:945
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Short stature, Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, I... OMIM:603546
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal hip bone morphology ORPHA:294975
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Polydactyly, Brachydactyly OMIM:617405
Biemond Syndrome Type 2
Microphthalmia, Short stature, Preaxial polydactyly, Hydrocephalus, Delayed puberty ORPHA:141333
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Humero-Radial Synostosis
Meningocele, Tarsal synostosis, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormality of ... ORPHA:3265
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Intrauterine growth retardation, Microphthalmia, Talipes equinovarus OMIM:616570
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Hallux valgus, Intrauterine growth retardation, Short stature, Cubitus valgus, Sp... ORPHA:1327
Meckel Syndrome, Type 2
Meningocele, Microphthalmia, Anencephaly, Polydactyly, Intrauterine growth retardation, Bowing of... OMIM:603194
Pelvis-Shoulder Dysplasia
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin... ORPHA:2839
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Postnatal growth retardation, Growth delay, Cervical spina bifida OMIM:600122
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Single transverse palmar crease, Myelomeningocele, Radial deviation of the thumb, 3-4 finger synd... ORPHA:2437
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Short stature, Genu... OMIM:613005
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Intrauterine growth retardation, Short stature, Hypoplastic iliac wing, Metaphyse... OMIM:300863
Congenital Vertical Talus
Equinus calcaneus, Myelomeningocele, Rocker bottom foot ORPHA:178382
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, S... OMIM:183802
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Schisis Association
Spina bifida, Micromelia, Anencephaly ORPHA:63862
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Bilateral single tra... ORPHA:1120
Caudal Duplication
Spinal cord lesion, Spina bifida, Myelomeningocele ORPHA:1756
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Fountain Syndrome
Metaphyseal dysplasia, Short stature, Large hands, Coarse metaphyseal trabecularization, Brachyda... ORPHA:3219
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus OMIM:207950
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Mild short stature, Short thumb, Overlappin... OMIM:618167
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos OMIM:611638
2Q24 Microdeletion Syndrome
Toe syndactyly, Microphthalmia, Growth delay, Hand clenching, Long fingers, Bullet-shaped distal ... ORPHA:1617
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of t... ORPHA:2117
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Short stature, Holoprosencephaly, Apla... ORPHA:1908
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Isolated Klippel-Feil Syndrome
Spina bifida, Abnormal shoulder morphology ORPHA:2345
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Abnormality of the calcaneus, Short stature, Hypoplastic iliac wing, Metaphyseal ... ORPHA:163966
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Meckel Syndrome, Type 4
Meningocele, Microphthalmia, Anencephaly, Intrauterine growth retardation, Bowing of the long bon... OMIM:611134
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Pelvis-Shoulder Dysplasia
Short clavicles, Microphthalmia, Hypoplastic scapulae, Short stature, Hypoplastic acetabulae, Con... OMIM:169550
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Micromelia ORPHA:291
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Short stature, Long fingers, Overlapping fingers, Hydrocephalus,... OMIM:300960
Polydactyly, Postaxial, Type A8
Genu valgum, Short stature, Postaxial polydactyly OMIM:618123
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Syndactyly, Hydrocephalus, Polydactyly OMIM:602501
Nail-Patella Syndrome
Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Microphakia, Short s... OMIM:161200
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... ORPHA:65759
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Rocker bottom foot, Growth delay, Camptodactyly ... OMIM:610756
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Bresek Syndrome
Microphthalmia, Intrauterine growth retardation, Growth delay, Neonatal death, Optic nerve hypopl... ORPHA:85284
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Epiphyseal stippling, Aplasia/Hypoplasia affec... ORPHA:1914
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism, Macrodactyly, Sandal gap OMIM:612918
Nanophthalmos 4
Microphthalmia OMIM:615972
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele OMIM:182940
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cousin Syndrome
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... OMIM:260660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Short stature, Postaxial polydactyly, Preaxial polydactyly, Genu ... OMIM:617927
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Short stature, Microphthalmia, Talipes equinovarus OMIM:612530
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Hydrolethalus Syndrome 2
Preaxial polydactyly, Hydrocephalus, Anencephaly, Postaxial polydactyly OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly OMIM:613885
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly, Bowing of the long bones, Postaxial foot polydactyly, Postaxial hand... OMIM:611561
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Vacterl With Hydrocephalus
Arrhinencephaly, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Hypoplasia of the... ORPHA:3412
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia, Camptodactyly of finger ORPHA:1759
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial aplasia, Finger synd... OMIM:274000
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Joubert Syndrome 22
2-3 toe syndactyly, Microphthalmia, Intrauterine growth retardation, Postaxial foot polydactyly, ... OMIM:615665
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Short stature, S... ORPHA:1393
Mosaic Trisomy 9
Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Rocker bottom foot, Hip dis... ORPHA:99776
Trisomy 18
Microphthalmia, Anencephaly, Short stature, Intrauterine growth retardation, Holoprosencephaly, A... ORPHA:3380
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Focal Dermal Hypoplasia
Toe syndactyly, Short clavicles, Microphthalmia, Hypoplasia of the iris, Abnormality of epiphysis... ORPHA:2092
Neu-Laxova Syndrome 1
Short umbilical cord, Toe syndactyly, Hydranencephaly, Microphthalmia, Intrauterine growth retard... OMIM:256520
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Growth delay OMIM:614082
Iniencephaly
Anencephaly, Myelomeningocele, Talipes equinovarus, Holoprosencephaly, Rocker bottom foot, Rhizom... ORPHA:63259
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Microphthalmia OMIM:609054
Cofs Syndrome
Intrauterine growth retardation, Short stature, Microphthalmia, Camptodactyly of finger ORPHA:1466
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Microphthalmia, Polydactyly, Palmar pits, Short distal phal... OMIM:109400
Pierpont Syndrome
Broad palm, Microphthalmia, Short stature, Short finger, Short foot, Short palm, Short toe, Deep ... OMIM:602342
Phaver Syndrome
Broad hallux phalanx, Triphalangeal thumb, Myelomeningocele, Intrauterine growth retardation, Uln... ORPHA:2876
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Orofaciodigital Syndrome Vi
Toe syndactyly, Short stature, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, ... OMIM:277170
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Joint contracture of th... OMIM:214150
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Hydrocephalus, Septo-optic dysplasia ORPHA:1528
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Hydrocephalus ORPHA:324416
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia affecting the eye ORPHA:1926
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metac... OMIM:617102
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele ORPHA:66637
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Intrauterine growth retardation ORPHA:858
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Joubert Syndrome 18
Intrauterine growth retardation, Polydactyly, Camptodactyly OMIM:614815
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Growth delay, Short stature ORPHA:2528
Frontonasal Dysplasia 1
Microphthalmia, Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypopl... OMIM:136760
Joubert Syndrome 14
Microphthalmia, Hydrocephalus, Growth delay, Postaxial polydactyly OMIM:614424
Trisomy 20P
Finger syndactyly, Spina bifida, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip... ORPHA:261318
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Pierpont Syndrome
Microphthalmia, Short finger, Short toe, Excessive wrinkling of palmar skin, Deep palmar crease, ... ORPHA:487825
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Short stature, Finger syndactyly, Hydrocephalus, Short long... ORPHA:1106
Triploidy
Meningocele, Intrauterine growth retardation, Holoprosencephaly, Finger syndactyly, Hydrocephalus... ORPHA:3376
Cloacal Exstrophy
Myelomeningocele, Talipes equinovarus, Absent foot, Hip dislocation, Spina bifida, Abnormality of... ORPHA:93929
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Microphthalmia, Short stature, Broad thumb, Optic nerve hypoplasia, Broad pha... ORPHA:508498
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad hallux phalanx, Broad thumb, Finger syndactyly, Exencephaly, Preaxial hand polydactyly ORPHA:2211
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Abnorm... ORPHA:93267
Temtamy Syndrome
Genu varum, Microphthalmia, Short toe, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1777
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Moebius Syndrome
Microphthalmia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia i... OMIM:157900
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Short stature, Upper limb asymmetry, Postnatal growth retardation, Clinodactyly of t... ORPHA:231140
Orofaciodigital Syndrome Viii
Syndactyly, Short stature, Polydactyly, Short tibia OMIM:300484
Meckel Syndrome, Type 3
Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:607361
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Syndactyly, Postn... ORPHA:397590
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia OMIM:616910
Gracile Bone Dysplasia
Microphthalmia, Short stature, Aniridia, Hydrocephalus, Slender long bone, Flared metaphysis, Bra... OMIM:602361
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Orofaciodigital Syndrome Xvii
Polydactyly, Short stature, Partial duplication of thumb phalanx, Central Y-shaped metacarpal, Cl... OMIM:617926
Limb Body Wall Complex
Short umbilical cord, Cutaneous finger syndactyly, Bilateral talipes equinovarus, Anencephaly, My... ORPHA:2369
Hydrolethalus
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydac... ORPHA:2189
Wildervanck Syndrome
Meningocele ORPHA:3456
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Short stature, Aplas... ORPHA:84
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Adducted thumb, Rocker bottom foot, Flexion contracture of toe, ... OMIM:610758
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Microphthalmia, Short stature ORPHA:195
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Lens coloboma, Microphthalmia, Umbilical hernia, Sandal gap, Joint contractur... OMIM:618914
Enlarged Parietal Foramina
Broad thumb, Short clavicles, Myelomeningocele ORPHA:60015
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Short stature, Microphthalmia, Camptodactyly of finger ORPHA:48431
Joubert Syndrome 10
Growth delay, Postaxial polydactyly OMIM:300804
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Myelomeningocele, Short stature OMIM:613686
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Septooptic Dysplasia
Polydactyly, Short stature, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Abnormality of epiphysis morphology,... ORPHA:175
Monosomy 18P
Holoprosencephaly, Short stature, Microphthalmia, Brachydactyly ORPHA:1598
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Warburg Micro Syndrome 1
Short stature, Microphthalmia, Overlapping toe OMIM:600118
Phocomelia, Schinzel Type
Meningocele, Fibular aplasia, Radial bowing, Hand oligodactyly, Intrauterine growth retardation, ... ORPHA:2879
Nanophthalmos
Microphthalmia ORPHA:35612
Endocrine-Cerebroosteodysplasia
Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polydactyly, Holopr... OMIM:612651
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele ORPHA:101030
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Short stature, Tapered finger, Long fingers, Short palm OMIM:616734
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Growth delay OMIM:278780
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Microphthalmia, Triphalangeal thumb, Optic disc hypoplasia, Pectoral... OMIM:607323
Curry-Jones Syndrome
Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Finger syndactyly, Foot polydactyly... ORPHA:1553
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, Hyd... OMIM:617866
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Short... ORPHA:2788
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Growth delay OMIM:274270
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism, Short stature OMIM:617660
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Mild short statu... OMIM:169400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Meckel Syndrome, Type 10
Anencephaly, Postaxial polydactyly OMIM:614175
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Tapered finger, Microphthalmia, Sandal gap ORPHA:1438
Jacobsen Syndrome
Broad hallux phalanx, Toe syndactyly, Intrauterine growth retardation, Growth delay, Short statur... ORPHA:2308
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
15Q24 Microdeletion Syndrome
Myelomeningocele, Short stature, Small hand, Abnormality of toe, Proximal placement of thumb, Abn... ORPHA:94065
Alg3-Cdg
Abnormality of limb bone morphology, Neural tube defect, Metaphyseal chondrodysplasia ORPHA:79321
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Ab... OMIM:251230
Waardenburg Syndrome, Type 1
Hypoplastic iris stroma, Spina bifida, Myelomeningocele OMIM:193500
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature, Abnormality of the metaphysis, Ap... ORPHA:290
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Intrauterine growth retardation, Short stature, Finger syndactyly, Camptodactyly of ... ORPHA:2311
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Mesomelic... ORPHA:2756
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Pallister-Hall Syndrome
Toe syndactyly, Microphthalmia, Mesoaxial hand polydactyly, Short stature, Oligodactyly, Holopros... OMIM:146510
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Warburg Micro Syndrome 4
Microphthalmia, Severe postnatal growth retardation, Short stature OMIM:615663
Vater/Vacterl Association
Patent urachus, Triphalangeal thumb, Intrauterine growth retardation, Hypoplasia of the radius, A... OMIM:192350
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Postnatal growth retardation, Microphthalmia OMIM:614222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Hydrocephalus, Postaxial polydactyly OMIM:603387
Neu-Laxova Syndrome
Large hands, Intrauterine growth retardation, Spina bifida, Micromelia ORPHA:2671
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Absent thumb, Intrauterine growth retardation OMIM:614083
Hallermann-Streiff Syndrome
Microphthalmia, Metaphyseal widening, Proportionate short stature, Spina bifida, Slender long bon... OMIM:234100
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microphthalmia, Intrauterine growth retardation, Talipes eq... ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Curry-Jones Syndrome
Cutaneous finger syndactyly, Microphthalmia, Broad thumb, Syndactyly, Duplication of thumb phalan... OMIM:601707
Adams-Oliver Syndrome
Microphthalmia, Abnormality of the upper limb, Finger syndactyly, Absent hand, Split hand, Brachy... ORPHA:974
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Hypoplastic ilia, Bowing of the legs, Short long bone, Ivory epiphyses, Bowing of... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus OMIM:613153
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Rhombencephalosynapsis
Polydactyly, Septo-optic dysplasia, Complete duplication of thumb phalanx, Finger syndactyly, Hyd... ORPHA:59315
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Postaxial polydactyly, Preaxial polydactyly, Overlapping fingers... OMIM:618142
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation ORPHA:2003
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Nephronophthisis 15
Polydactyly OMIM:614845
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Clinodactyly of the 5th finger, Short stature ORPHA:2031
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia, Growth delay, Short stature OMIM:606744
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Microphthalmia, Camptodactyly of finger ORPHA:2547
Trisomy 13
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Bi... ORPHA:3378
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Short... OMIM:615994
Au-Kline Syndrome
Deep palmar crease, Hip dysplasia, Overlapping toe, Postaxial polydactyly OMIM:616580
Microphthalmia, Syndromic 8
Microphthalmia, Split foot OMIM:601349
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, Bilateral single transverse ... OMIM:618804
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Myelomeningocele, Bowing of the long bones, Synostosis of car... ORPHA:90652
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Talipes equinovarus, Tapered finger, Short stature, Short thumb, Cam... OMIM:619148
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... ORPHA:268810
Neurofibromatosis, Type I
Short stature, Genu valgum, Spina bifida, Hydrocephalus, Tibial pseudarthrosis, Aqueductal stenosis OMIM:162200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Flat acetabular roof, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Short stature, Bo... OMIM:614091
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly OMIM:129540
Chromosome 3Pter-P25 Deletion Syndrome
Short stature, Tapered finger, Postaxial polydactyly, Macular hypoplasia, Postnatal growth retard... OMIM:613792
Aicardi Syndrome
Postnatal growth retardation, Spina bifida, Microphthalmia, Proximal placement of thumb OMIM:304050
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia, Abnormal femoral neck/head morphology, Wide proximal femoral metaphysis, Abnormal... ORPHA:163649
3P25.3 Microdeletion Syndrome
Microphthalmia, Postaxial polydactyly, Tapered finger, Congenital pseudoarthrosis of the clavicle... ORPHA:435638
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
17Q12 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Finger syndactyly ORPHA:261272
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydacty... OMIM:258860
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Mosaic Trisomy 1
Toe syndactyly, Microphthalmia, Deviation of the 5th toe, Rocker bottom foot, Hand clenching, Bro... ORPHA:1692
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Microphthalmia, Radial club hand, Triphalange... ORPHA:959
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Acromelic Frontonasal Dysplasia
Meningocele, Talipes equinovarus, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Preaxial ... ORPHA:1827
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace... ORPHA:1505
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Fanconi Anemia, Complementation Group S
Short stature, Microphthalmia, Proximal placement of thumb, Clinodactyly OMIM:617883
Monosomy 13Q14
Microphthalmia, Intrauterine growth retardation, Short stature, Holoprosencephaly, Aplasia/Hypopl... ORPHA:1587
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Intrauterine growth retardation, Postaxial polydactyly OMIM:615824
Oculofaciocardiodental Syndrome
Broad palm, 2-3 toe syndactyly, Microphthalmia, Hammertoe, Cubitus valgus, Genu valgum, Flexion c... ORPHA:2712
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Martsolf Syndrome 1
Metatarsus adductus, Microphthalmia, Slender ulna, Talipes equinovarus, Short stature, Short meta... OMIM:212720
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia ORPHA:2481
Acromelic Frontonasal Dysostosis
Syndactyly, Polydactyly, Talipes equinovarus, Preaxial polydactyly OMIM:603671
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Growth delay, Holoprosencephaly, Anophthalmia, Hydrocephalus ORPHA:77298
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Microphthalmia, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stipp... OMIM:302960
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Microphthalmia, Short stature OMIM:147250
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Absent radius, ... ORPHA:1352
Joubert Syndrome 23
Polydactyly OMIM:616490
Joubert Syndrome 37
Microphthalmia, Short stature, Postaxial polydactyly OMIM:619185
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Microphthalmia, Occipital myelomeningocele, Talipes equinovarus, Sh... ORPHA:567
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Microphthalmia, Abnormal metacarpa... ORPHA:251014
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Short sta... ORPHA:3191
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Fanconi Anemia, Complementation Group I
Microphthalmia, Intrauterine growth retardation, Short stature, Optic nerve hypoplasia, Hypoplasi... OMIM:609053
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Short stature, Polydactyly, Brachydactyly OMIM:613819
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation, Clinodactyly of the 5th toe, Joint contracture o... OMIM:244300
Bardet-Biedl Syndrome 8
Polydactyly OMIM:615985
Congenital Disorder Of Glycosylation, Type Iil
Intrauterine growth retardation, Growth delay, Postaxial polydactyly, Hip dysplasia, Hydrocephalus OMIM:614576
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly, Short stature OMIM:301022
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hydrocephalus, Umbilical hernia, Polydactyly ORPHA:93400
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly... ORPHA:139471
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia, Intrauterine growth retardation, Absent radius, Aplasia of the 1st metacarpal, Hy... OMIM:600123
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
20P13 Microdeletion Syndrome
Clinodactyly, Polydactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Stillbirth, Preaxial polydactyly, Hydrocephalus OMIM:243605
Marden-Walker Syndrome
Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Arachnodactyly, Joint contr... OMIM:248700
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Microphthalmia, Holoprosencephaly, Hydrocephalus, Postaxial foot polydactyly,... OMIM:264480
Orofaciodigital Syndrome I
Myelomeningocele, Polydactyly, Short stature, Abnormality of toe, Radial deviation of finger, Syn... OMIM:311200
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Short stature, Abnormality of the metaphysis, Short foot, ... ORPHA:474
Microgastria-Limb Reduction Defect Syndrome
Arrhinencephaly, Microphthalmia, Growth delay, Phocomelia, Anophthalmia, Aplastic clavicle, Abnor... ORPHA:2538
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Trisomy 8Q
Brachydactyly, Deep palmar crease, Myelomeningocele, Camptodactyly of finger ORPHA:1752
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Short stature, Epiphyseal stippling, Prominent calcaneus, Short 1st metac... ORPHA:96334
Joubert Syndrome 15
Polydactyly OMIM:614464
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia, Growth delay, Broad finger, Broad toe, Small hand, Short foot, Short palm, Short ... OMIM:271960
Holoprosencephaly
Microphthalmia, Holoprosencephaly, Anophthalmia, Branchial anomaly, Hydrocephalus, Hand polydacty... ORPHA:2162
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Congenital hip dislocation OMIM:164180
Pagod Syndrome
Meningocele, Spina bifida, Short stature ORPHA:991
Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Syringomyelia, Hydrocephalus, Hand muscle atrophy, Aqueductal sten... ORPHA:1136
Ritscher-Schinzel Syndrome 3
Microphthalmia, Epiphyseal stippling, Shortening of all distal phalanges of the fingers, Ulnar bo... OMIM:619135
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia, Severe postnatal growth... ORPHA:2399
Bartsocas-Papas Syndrome 2
Absent distal phalanges, Small hand, Microphthalmia OMIM:619339
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Joubert Syndrome 16
Polydactyly OMIM:614465
Lathosterolosis
Meningocele, Toe syndactyly, Intrauterine growth retardation, Postaxial foot polydactyly, Postaxi... ORPHA:46059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia, Hydrocephalus OMIM:615249
9Q21.13 Microdeletion Syndrome
Syringomyelia, Hip dysplasia, Postnatal growth retardation, Polydactyly ORPHA:531151
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation, Narrow palm, Tapered finger, Short stature, Cubi... ORPHA:193
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger OMIM:619480
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Syndactyly, Camptodactyly, Bilateral microphthalmos, Clinodactyly, Umbilical herni... ORPHA:369891
Steinfeld Syndrome
Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the... OMIM:184705
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Early oss... ORPHA:397715
Hydrolethalus Syndrome 1
Arrhinencephaly, Upper limb undergrowth, Microphthalmia, Severe hydrocephalus, Anencephaly, Talip... OMIM:236680
Mend Syndrome
2-3 toe syndactyly, Microphthalmia, Short stature, Long fingers, Overlapping fingers, Hydrocephal... ORPHA:401973
Tarp Syndrome
Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the ra... OMIM:311900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Micromelia, Brachydactyly, Hypoplast... OMIM:617895
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the... ORPHA:3186
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Microphthalmia, Postaxial polydactyly, Broad distal phalanx of finger, Postax... ORPHA:404440
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Phocomelia, Aplastic pubi... OMIM:276820
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Short stature, Microphthalmia, Duplication of phalanx of hallux OMIM:243310
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Microphthalmia, Brachydactyly OMIM:614526
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Isolated Optic Nerve Hypoplasia/Aplasia
Growth delay, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Unil... ORPHA:137902
Koolen-De Vries Syndrome Due To A Point Mutation
Anomaly of lower limb diaphyses, Arachnodactyly, Dural ectasia, Spina bifida, Hydrocephalus, Hand... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Anomaly of lower limb diaphyses, Arachnodactyly, Dural ectasia, Spina bifida, Hydrocephalus, Hand... ORPHA:363958
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia, Hydrocephalus, Metatarsus valgus ORPHA:899
Adams-Oliver Syndrome 2
Microphthalmia, Single transverse palmar crease OMIM:614219
Stevenson-Carey Syndrome
Hip dysplasia, Microphthalmia, Joint contracture of the hand, Camptodactyly OMIM:611961
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Microphthalmia, Short stature, Fifth finger distal phalanx clinodactyly, Small ... OMIM:257850
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Umbilical hernia, Upper limb asymmetry ORPHA:2505
Lateral Meningocele Syndrome
Meningocele, Short stature, Syringomyelia, Dural ectasia, Umbilical hernia OMIM:130720
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Suleiman-El-Hattab Syndrome
Clinodactyly, Polydactyly, Brachydactyly, Single transverse palmar crease OMIM:618950
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Focal Dermal Hypoplasia
Short stature, Short metatarsal, Midclavicular hypoplasia, Foot polydactyly, Hydrocephalus, Short... OMIM:305600
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Split Cord Malformation
Meningocele, Hydromyelia, Myelomeningocele, Talipes equinovarus, Talipes cavus equinovarus, Syrin... ORPHA:573278
Jacobsen Syndrome
Microphthalmia, Intrauterine growth retardation, Holoprosencephaly, Macular hypoplasia, Hydroceph... OMIM:147791
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short stature, Postaxial polydactyly, Acetabular spurs, Preaxial polydactyly, Syndactyly, Femoral... OMIM:615503
Meckel Syndrome, Type 1
Microphthalmia, Anencephaly, Intrauterine growth retardation, Bowing of the long bones, Clinodact... OMIM:249000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Spondylo-Ocular Syndrome
Disproportionate short-trunk short stature, Microphthalmia, Aplasia/Hypoplasia of the lens, Short... ORPHA:85194
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia ORPHA:1942
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia ORPHA:370959
Incontinentia Pigmenti
Microphthalmia, Short stature, Finger syndactyly, Deviation of finger, Abnormal hand morphology, ... ORPHA:464
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Hydrocephalus, Micro... OMIM:616546
Heart And Brain Malformation Syndrome
Hand clenching, Microphthalmia, Growth delay, Camptodactyly of finger OMIM:616920
Refsum Disease
Abnormality of epiphysis morphology, Short metacarpal, Microphthalmia, Hammertoe ORPHA:773
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Clinodactyly, Brachydactyly OMIM:618727
Fanconi Anemia, Complementation Group D2
Microphthalmia, Short stature, Absent radius, Complete duplication of thumb phalanx, Short thumb,... OMIM:227646
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Dural ectasia, Umbilical hernia ORPHA:2789
Yunis-Varon Syndrome
Arrhinencephaly, Short middle phalanx of finger, Short stature, Syndactyly, Hydrocephalus, Postna... ORPHA:3472
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Joubert Syndrome 32
Postaxial polydactyly OMIM:617757
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Severe postnatal growth retardation, Talipes equinovarus, Epiphyseal stippling, S... ORPHA:35173
Pseudoaminopterin Syndrome
Short stature, Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis of carpal bones, Sl... ORPHA:221120
Monosomy 9Q22.3
Microphthalmia, Polydactyly, Palmar pits, Hydrocephalus, Umbilical hernia ORPHA:77301
Meckel Syndrome
Microphthalmia, Lobar holoprosencephaly, Anencephaly, Anophthalmia, Bowing of the long bones, Apl... ORPHA:564
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Microphthalmia, Hydrocephalus, Short palm ORPHA:268249
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Short foot, Bilateral microphthalmos OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Fanconi Anemia, Complementation Group F
Microphthalmia, Intrauterine growth retardation, Short stature, Hypoplasia of the radius, Short t... OMIM:603467
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hip dysplasia, Microphthalmia ORPHA:494344
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Short stature OMIM:619318
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:614833
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Single transverse palmar crease, Microphthalmia, Adducted thumb, Finger synda... ORPHA:464738
Microphthalmia, Lenz Type
Microphthalmia, Short stature, Complete duplication of thumb phalanx, Finger syndactyly, Camptoda... ORPHA:568
Joubert Syndrome 2
Microphthalmia, Hydrocephalus, Postaxial hand polydactyly OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Adducted thumb, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:614643
Teebi-Shaltout Syndrome
Metatarsus adductus, Microphthalmia, Ulnar deviation of the hand, Rocker bottom foot, Talipes equ... OMIM:272950
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Aplasia/Hypoplasia involving the pelvis, Hydrocephalus, Septo-optic dysplasia ORPHA:3301
Sacral Defect With Anterior Meningocele
Meningocele OMIM:600145
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia, Overlapping toe OMIM:614225
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
3Q29 Microduplication Syndrome
Toe syndactyly, Microphthalmia, Aniridia, Sandal gap, Camptodactyly of toe ORPHA:251038
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Microphthalmia OMIM:615877
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Holoprosencephaly, Hydrocephalus, Postaxial hand polydactyly, Umbilical hernia ORPHA:2166
Orofaciodigital Syndrome Type 6
Growth delay, Short stature, Mesoaxial polydactyly, Foot polydactyly, Preaxial polydactyly, Synda... ORPHA:2754
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Flat acetabular roof, Hy... OMIM:616300
Galloway-Mowat Syndrome 3
Microphthalmia, Intrauterine growth retardation, Short stature, Arachnodactyly, Hip dislocation, ... OMIM:617729
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Galloway-Mowat Syndrome 1
Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Hypoplasia of the iris, Han... OMIM:251300
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Postaxial polydactyly, Neonatal death, Fibular hypoplasia, Preaxial polydactyly, ... OMIM:617925
Adnp Syndrome
2-3 toe syndactyly, Polydactyly, Short stature, Abnormality of toe, Abnormality of finger, Sandal... ORPHA:404448
Congenital Fibrinogen Deficiency
Clubbing of fingers, Microphthalmia ORPHA:335
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Holoprosencephaly 9
Microphthalmia, Short stature, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia, Hydroceph... OMIM:610829
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Microphthalmia, Overlapping toe OMIM:618571
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hydrocephalus, Hypoplasia of the iris OMIM:613001
Oculoauricular Syndrome
Microphthalmia, Microphakia, Phthisis bulbi, Macular hypoplasia, Spina bifida occulta OMIM:612109
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Growth delay, Holoprosencephaly, ... ORPHA:1052
Arima Syndrome
Occipital meningocele, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:243910
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Nance-Horan Syndrome
Broad finger, Short phalanx of finger, Microphthalmia OMIM:302350
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Intrauterine growth retardation, Postnatal growth retardation, M... ORPHA:2728
Myhre Syndrome
2-3 toe syndactyly, Microphthalmia, Cone-shaped epiphysis, Short stature, Short finger, Hypoplast... OMIM:139210
Lathosterolosis
Toe syndactyly, Myelomeningocele, Talipes equinovarus, Growth delay, Postaxial foot polydactyly, ... OMIM:607330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Optic nerve hypoplasia, Hip dysplasia, Hydrocephalus, Broad hallux, Clinod... ORPHA:457284
Joubert Syndrome 1
Clinodactyly, Occipital myelomeningocele, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:213300
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Small hand, Short foot ORPHA:2714
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Abnormality of the palmar creases OMIM:618652
Frontorhiny
Finger clinodactyly, Brachydactyly, Microphthalmia, Camptodactyly of finger ORPHA:391474
8Q21.11 Microdeletion Syndrome
Microphthalmia, Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormality of ... ORPHA:284160
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation, Short stature, Absent radius, Complete duplicati... OMIM:227645
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1915
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Fryns Syndrome
Arrhinencephaly, Microphthalmia, Rocker bottom foot, Proximal placement of thumb, Stillbirth, Joi... OMIM:229850
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia of the distal phalanx of the 5th finger,... ORPHA:364577
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Hypoplastic scapulae, Hypop... OMIM:263650
Pallister-Hall Syndrome
Arrhinencephaly, Polydactyly affecting the 4th finger, Short stature, Broad toe, Mesoaxial polyda... ORPHA:672
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature, Absent radius, Complete duplication of thumb phalanx, Short thumb,... OMIM:600901
Momo Syndrome
Short stature, Large hands, Congenital pseudoarthrosis of the clavicle, Short sternum, Femoral bo... ORPHA:2563
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Miller-Dieker Lissencephaly Syndrome
Intrauterine growth retardation, Polydactyly, Joint contracture of the hand, Camptodactyly, Clino... OMIM:247200
Cockayne Syndrome B
Microphthalmia, Normal pressure hydrocephalus, Hypoplasia of the iris, Hypoplastic iliac wing, In... OMIM:133540
Fanconi Anemia, Complementation Group A
Microphthalmia, Short stature, Absent radius, Complete duplication of thumb phalanx, Short thumb,... OMIM:227650
Nephronophthisis 13
Polydactyly OMIM:614377
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Growth delay, Short stature, Bowing of the... OMIM:617063
Tarp Syndrome
Intrauterine growth retardation, Rocker bottom foot, Postaxial polydactyly, Talipes equinovarus, ... ORPHA:2886
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia OMIM:156610
Bardet-Biedl Syndrome 1
Postaxial polydactyly, Foot polydactyly, Radial deviation of finger, Short foot, Syndactyly, Post... OMIM:209900
Oculodentodigital Dysplasia
Microphthalmia, Cubitus valgus, Short middle phalanx of the 5th finger, 3-4 toe syndactyly, 4-5 f... OMIM:164200
Khan-Khan-Katsanis Syndrome
Buphthalmos, Intrauterine growth retardation, Short stature, Postaxial polydactyly, Clinodactyly OMIM:618460
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Palmoplantar keratoderma, Flexion contracture of finger ORPHA:1010
Roberts-Sc Phocomelia Syndrome
Severe intrauterine growth retardation, Microphthalmia, Hand oligodactyly, Phocomelia, Elbow flex... OMIM:268300
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Microphthalmia, Talipes equinovarus, Hammertoe, Anophthalmia, Hand clenching,... OMIM:300166
Dubowitz Syndrome
Microphthalmia, Intrauterine growth retardation, Hypoplasia of the iris, Postnatal growth retarda... OMIM:223370
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Tapered finger, Postaxial polydactyly, Small hand, Hip dislocation, Short foot, Hi... OMIM:300968
Marfan Syndrome
Meningocele, Hypoplasia of the iris, Arachnodactyly, Dural ectasia, Protrusio acetabuli, Limited ... ORPHA:558
Craniofacial Microsomia
Branchial anomaly, Microphthalmia, Hydrocephalus, Anophthalmia OMIM:164210
Witteveen-Kolk Syndrome
Toe syndactyly, Microphthalmia, Intrauterine growth retardation, Short stature, Growth delay, Pro... OMIM:613406
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature, Short metacarpal, Short distal phalanx of finger, Acetabular dyspl... OMIM:201180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:613150
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Holoprosencephaly, Microphthalmia, Hydrocephalus OMIM:253800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Lobar holoprosencephaly, Optic nerve hypoplasia, 4-5 finger synd... ORPHA:468631
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Tapered finger, Bilateral single transverse palmar creases, Camptodactyly of fing... ORPHA:1236
Frontofacionasal Dysplasia
Microphthalmia, Short stature ORPHA:1791
Matthew-Wood Syndrome
Anophthalmia, Intrauterine growth retardation, Microphthalmia ORPHA:2470
Non-Syndromic Anorectal Malformation
Tethered cord, Syringomyelia, Myelomeningocele ORPHA:557
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Tapered finger ORPHA:65286
Micro Syndrome
Intrauterine growth retardation, Microphthalmia, Delayed puberty, Short stature ORPHA:2510
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Talipes equinovarus, Short stature, Small hand, Congenital hip dislocation, Short... OMIM:268400
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Charge Syndrome
Bifid femur, Microphthalmia, Intrauterine growth retardation, Short stature, Holoprosencephaly, A... ORPHA:138
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:228390
Cranioectodermal Dysplasia 3
Short stature, Postaxial polydactyly, Sandal gap, Syndactyly, Brachydactyly OMIM:614099
Microphthalmia, Syndromic 3
Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Postnatal growth retardation OMIM:206900
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Septo-optic dysplasia, Growth delay, Holoprosencephaly, Optic nerve hypoplasia, Pitu... ORPHA:95494
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Intrauterine growth retardation, Polydactyly, Short stature, Arach... ORPHA:464306
3Mc Syndrome 3
Growth delay, Short stature, Preaxial polydactyly, Clinodactyly, Radioulnar synostosis OMIM:248340
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Phthisis bulbi, Microphthalmia, Short stature OMIM:259770
Rubinstein-Taybi Syndrome 1
High axial triradius, Polydactyly, Radial deviation of thumb terminal phalanx, Hypoplastic iliac ... OMIM:180849
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Single transverse palmar crease OMIM:619053
Fontaine Progeroid Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Neonatal death, Syndactyly, Hydro... OMIM:612289
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation, Short finger, Aplasia of the distal phalanx of t... OMIM:608670
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Growth delay OMIM:234050
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Cat Eye Syndrome
Microphthalmia, Absent radius OMIM:115470
Fraser Syndrome
Toe syndactyly, Microphthalmia, Myelomeningocele, Anophthalmia, Wide pubic symphysis, Finger synd... ORPHA:2052
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Abnormality of the medullary cavity of the long bones, Short stature, Thickened c... OMIM:127000
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Fraser Syndrome 1
Cutaneous finger syndactyly, Myelomeningocele, Anophthalmia, Aplasia/Hypoplasia of the thumb, Apl... OMIM:219000
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Growth delay, Short ... ORPHA:93325
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Adducted thumb, Short stature OMIM:618874
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:610125
Kinsship Syndrome
Polydactyly, Short stature, Fibular hypoplasia, Dislocated radial head, Hip dislocation, Mesomeli... OMIM:619297
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:236670
Rabson-Mendenhall Syndrome
Severe postnatal growth retardation, Intrauterine growth retardation, Polydactyly, Short stature ORPHA:769
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Short stature OMIM:309801
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Intrauterine growth retardation, Short stature, Syndactyly, Hip dysplasia, Clinod... OMIM:616975
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Charge Syndrome
Arrhinencephaly, Absent tibia, Microphthalmia, Bifid femur, Hand monodactyly, Holoprosencephaly, ... OMIM:214800
Loeys-Dietz Syndrome 2
Talipes equinovarus, Postaxial polydactyly, Arachnodactyly, Joint contracture of the hand, Dural ... OMIM:610168
Cranioectodermal Dysplasia 2
Polydactyly, Short stature, Rhizomelia, Syndactyly, Mesomelia, Postaxial hand polydactyly, Clinod... OMIM:613610
Fryns Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Short distal phalanx of finger ORPHA:2059
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria